A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736545



Internal ID9970877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6933347..6933675hg38UCSC Ensembl
Outerchr8:6790869..6791197hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1198e201
Supporting Variantsessv6861557, essv6897169, essv6870243, essv6881850, essv6856128, essv6866299, essv6720044, essv6684505, essv6791159, essv6694826, essv6834323, essv6890704, essv6778803, essv6948400, essv6931108, essv6723848, essv6727694, essv6787050, essv6771413, essv6958049, essv6822967, essv6830220, essv6860242, essv6682965, essv6677139, essv6904300, essv6841811, essv6795301, essv6908205, essv6814855, essv6837989, essv6873207, essv6830719, essv6911924, essv6691013, essv6708940, essv6975883, essv6827012, essv6782834, essv6964675, essv6944138, essv6850104, essv6808859, essv6672025, essv6818886, essv6698311, essv6712408, essv6767997, essv6887467, essv6900136, essv6845435, essv6687762
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM013, SSM042, SSM088, SSM041, SSM023, SSM084, SSM090, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM085, SSM068, SSM081, SSM082, SSM020, SSM015, SSM078, SSM005, SSM080, SSM037, SSM077, SSM010, SSM091, SSM070, SSM034, SSM099
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2736545
Frequency
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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